Lingual myoclonus is a poorly understood disorder that may occur in isolation or combined with palatal myoclonus. In this report, we present the case history of a 21-year-old patient with a therapy-resistant essential lingual and palatal myoclonus where a simple dental device was able to control symptoms. The use of this device will be highlighted and compared to previously described methods. Cases of previously recorded lingual and palatal myoclonus will be reviewed and compared to the case of our patient.
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http://dx.doi.org/10.1002/mds.21320 | DOI Listing |
BMJ Case Rep
January 2025
Neurology, Joondalup Health Campus, Joondalup, Western Australia, Australia.
Anti-dipeptidyl-peptidase-like protein 6 antibody-mediated disease is a rare autoimmune encephalitis typically presenting with diarrhoea and/or weight loss, central nervous system hyperexcitability and cognitive dysfunction. We present a case of a young woman with 10 days of diplopia and unsteadiness in the context of dysthymia and significant weight loss over 2 months. Initial examination demonstrated mixed dysconjugate nystagmus and ataxic gait.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Neurological Institute of Thailand, Ratchathewi, Bangkok, Thailand.
Background: Sporadic Creutzfeldt-Jakob disease (sCJD) is one of common causes of rapidly progressive dementia worldwide. However, because of the variety of its clinical presentations that mimic other cognitive disorders, the certain diagnosis in public hospitals is still limited. Therefore, this study provides more information about disease manifestations and clinical courses of probable sCJD cases in Thailand.
View Article and Find Full Text PDFActa Neurol Taiwan
December 2024
Zanjan University of Medical Sciences, Zanjan, Iran.
Here we presented a rare case of Lafora disease with neuropathy, ataxia and progression of symptoms into type one DM, GTCS and myoclonus during years. We believe that it is important to keep the diagnosis of Lafora disease in mind in every child presenting with myoclonus especially when mental and cerebellar deficits develop as well. Keywords: Drug-resistant seizure, Ataxia, Myoclonic jerky movements, Lafora.
View Article and Find Full Text PDFJ Pediatr Endocrinol Metab
December 2024
Department of Neurology, Ankara Etlik City Hospital, Ankara, Türkiye.
Objectives: Sialidosis type 1 is a rare autosomal recessive lysosomal storage disorder caused by pathogenic variants in the gene, which encodes the sialic acid-degrading enzyme α-neuraminidase. Sialidosis type 1 is a milder form with a late-onset phenotype, characterized by progressive myoclonic epilepsy and ataxia with cherry-red spots. Sialidosis type 2 is an early-onset and more severe form presenting with dysmorphic features, hepatosplenomegaly and cognitive delay.
View Article and Find Full Text PDFZh Nevrol Psikhiatr Im S S Korsakova
December 2024
Kemerovo State Medical University, Kemerovo, Russia.
Opsoclonus-myoclonus syndrome (OMS) is a rare neurological disorder characterized by a combination of main symptoms: opsoclonus, myoclonus, ataxia, psychoemotional and behavioral disturbances. OMS can develop in children as a result of immunopathological processes against the background of infectious or oncological pathology and lead to persistent neurological deficit. A case of ten-year observation of paraneoplastic OMS associated with neuroblastoma in a child is presented.
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